Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.R75H
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CHRNA1

NM_000079.4:p.R75H

Associated Papers

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Ryan-Phillips F et al.

Biomedicines, 2024

39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › AlphaMissense_Results.xlsx › Sheet1

Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients.

Andersen NB et al.

Frontiers in Microbiology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."